DRAVET SYNDROME is more than seizures, children with this orphan disease face other consequences that make it impossible for them to lead a normal life. Finding more carriers will allow us to obtain support from different laboratories to start research in Colombia.
CEO Foundation
You can make a financial contribution through the DONATE button. If you know someone with epilepsy who is positive in the SCN1A GEN, you can contact us.
Dravet syndrome begins in the first year of life, usually with epileptic seizures triggered by fever, then these seizures become drug resistant. The diagnosis is made with a genetic test, where the patient tests positive for a mutation of the SCN1A gene.
Over the years, and due to the frequency of epileptic seizures, patients diagnosed with Dravet experience other symptoms such as sensory integration disorders, sleeping difficulties, movement and balance difficulties, nervous system deficiencies autonomous, chronic infections.
Generally, in a person diagnosed with epilepsy, drugs usually control seizures, but this is not the case in patients with Dravet Syndrome, since most drugs are usually not as effective as desired. However, thanks to advances in science, better drugs are being developed to control crises, and work is also being done in the genetic field to develop a gene therapy that allows not only to control crises, but also to cure them definitively.
It is a therapeutic technique by which a functional gene is inserted into the cells of a patient to correct a genetic defect causing a pathology.
